### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TYMP) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "TYMP" "thymidine phosphorylase" "22" "q13" "unknown" "NG_011860.1" "UD_132084551956" "" "https://www.LOVD.nl/TYMP" "" "1" "3148" "1890" "131222" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/TYMP_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2018-02-10 18:58:38" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025455" "TYMP" "transcript variant 4" "004" "NM_001257988.1" "" "NP_001244917.1" "" "" "" "-227" "1467" "1449" "50968514" "50964181" "00006" "2019-08-05 08:39:39" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01052" "MTDPS1" "mitochondrial DNA depletion syndrome, type 1 (MTDPS-1, MNGIE type)" "AR" "603041" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01926" "MEOAL;MMDS8" "mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy" "AR" "251900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-11-25 10:11:25" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TYMP" "01052" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00037301" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037302" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037303" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037304" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037305" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037306" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037307" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037308" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00050428" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00225598" "" "" "" "1" "" "02551" "" "" "M" "" "" "" "0" "" "" "" "" "00250187" "" "" "" "1" "" "03387" "" "" "F" "no" "United States" "" "0" "" "" "" "" "00250188" "" "" "" "1" "" "03387" "" "" "M" "no" "United States" "" "0" "" "" "Navajo" "" "00250189" "" "" "" "1" "" "03387" "" "" "F" "?" "United States" "" "0" "" "" "" "" "00250190" "" "" "" "1" "" "03387" "" "" "M" "?" "United States" "" "0" "" "" "" "" "00293158" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293159" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293160" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296610" "" "" "" "1" "" "00006" "{PMID:Taylor 2014:25058219}" "" "F" "" "United Kingdom (Great Britain)" "<01m" "0" "" "" "British" "Pat43" "00320152" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00037301" "00198" "00037302" "00198" "00037304" "00198" "00037305" "00198" "00037306" "00198" "00037307" "00198" "00037308" "01926" "00050428" "00198" "00250187" "01052" "00250188" "01052" "00250189" "01052" "00250190" "01052" "00293158" "00198" "00293159" "00198" "00293160" "00198" "00296610" "00198" "00320152" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01052, 01926 ## Count = 15 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037040" "00198" "00050428" "00006" "Isolated (sporadic)" "" "generalized hypotonia, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000156873" "00198" "00037301" "01164" "Unknown" "" "suspected MNGIE" "" "" "" "" "" "" "" "" "" "MNGIE?" "" "0000156874" "00198" "00037302" "01164" "Unknown" "" "suspected MNGIE" "" "" "" "" "" "" "" "" "" "MNGIE?" "" "0000156875" "00198" "00037304" "01164" "Unknown" "" "weight loss, demyelinating polyneuropathy, ophtalmoplegia, leukoencephalopathy" "" "" "" "" "" "" "" "" "" "Weill-Marchesani syndrome?" "" "0000156876" "00198" "00037305" "01164" "Unknown" "" "suspected mitochondriopathy, status post purulent peritonitis, status post Ileus, hearing loss" "" "" "" "" "" "" "" "" "" "mitochondrial disease?" "" "0000156877" "00198" "00037306" "01164" "Unknown" "" "suspected MNGIE" "" "" "" "" "" "" "" "" "" "MNGIE?" "" "0000156878" "00198" "00037307" "01164" "Unknown" "" "suspected MNGIE" "" "" "" "" "" "" "" "" "" "MNGIE?" "" "0000156879" "01926" "00037308" "01164" "Unknown" "" "MNGIE" "" "" "" "" "" "" "" "" "" "mitochondrial DNA depletion syndrome" "" "0000170710" "00198" "00225598" "02551" "Unknown" "" "HP:0001271 (Polyneuropathy)" "" "" "" "" "" "" "" "" "" "" "" "0000188751" "01052" "00250187" "03387" "Familial, autosomal recessive" "36y" "Elevated thymidine, ptosis, PEO, peripheral neuropathy" "" "36y" "adolescence" "Thymidine Phosphorylase" "" "" "" "" "MNGIE" "MNGIE" "" "0000188752" "01052" "00250188" "03387" "Familial, autosomal recessive" "" "Elevated thymidine, liver cirrhosis and failure, hearing loss" "00y14m" "" "14m" "Thymidine Phosphorylase" "" "" "" "" "MNGIE" "Liver failure" "" "0000188753" "01052" "00250189" "03387" "Familial, autosomal recessive" "" "severe gastrointestinal dysmotility, fatigue, weakness, extremity paresthesias" "" "20y" "" "Thymidine Phosphorylase" "" "" "" "" "MNGIE" "MNGIE" "" "0000188754" "01052" "00250190" "03387" "Familial, autosomal recessive" "" "demyelinating neuropathy, liver cirrhosis, gastric dysmotility" "" "22y" "14y" "Thymidine Phosphorylase" "" "" "" "" "MNGIE" "" "" "0000224016" "00198" "00296610" "00006" "Unknown" "<1m" "deceased; muscle affected; central nervous system not affected; heart not affected; liver not affected; congenital lactic acidosis, mtDNA depletion" "1d" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000242198" "00198" "00320152" "01807" "Unknown" "" "Polycystic kidney dysplasia (HP:0000113); Microcephaly (HP:0000252); Global developmental delay (HP:0001263); Failure to thrive (HP:0001508); Broad toe (HP:0001837); Broad thumb (HP:0011304); Arachnoid cyst (HP:0100702)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037371" "00037301" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037372" "00037302" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037373" "00037303" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037374" "00037304" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037375" "00037305" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037376" "00037306" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037377" "00037307" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037378" "00037308" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000050373" "00050428" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000226677" "00225598" "1" "02551" "02551" "2019-02-18 19:07:23" "" "" "SEQ" "DNA" "" "" "0000251294" "00250187" "1" "03387" "03387" "2019-08-02 20:45:11" "" "" "SEQ-NG" "DNA" "Blood" "WES" "0000251295" "00250188" "1" "03387" "03387" "2019-08-02 21:09:59" "00006" "2019-08-05 08:56:43" "SEQ" "DNA" "" "" "0000251296" "00250189" "1" "03387" "03387" "2019-08-02 21:25:43" "00006" "2019-08-05 08:56:43" "SEQ" "DNA" "" "" "0000251297" "00250190" "1" "03387" "03387" "2019-08-02 21:30:44" "00006" "2019-08-05 08:56:43" "SEQ" "DNA" "" "" "0000294326" "00293158" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294327" "00293159" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294328" "00293160" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297720" "00296610" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000321337" "00320152" "1" "01807" "01807" "2020-11-23 17:38:12" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000037371" "TYMP" "0000037372" "TYMP" "0000037373" "TYMP" "0000037374" "TYMP" "0000037375" "TYMP" "0000037376" "TYMP" "0000037377" "TYMP" "0000037378" "TYMP" "0000251294" "TYMP" "0000251295" "TYMP" "0000251296" "TYMP" "0000251297" "TYMP" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 114 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000064496" "1" "90" "22" "50967768" "50967768" "subst" "1.22669E-5" "01164" "TYMP_000001" "g.50967768C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50529339C>G" "" "pathogenic" "" "0000064497" "1" "90" "22" "50964571" "50964571" "subst" "0" "01164" "TYMP_000005" "g.50964571C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50526142C>T" "" "pathogenic" "" "0000064498" "1" "10" "22" "50964446" "50964446" "subst" "0.111923" "01164" "TYMP_000004" "g.50964446A>T" "" "" "" "" "c.1284T>A" "Germline" "" "rs1138404" "0" "" "" "g.50526017A>T" "" "benign" "" "0000064499" "1" "50" "22" "50965674" "50965674" "subst" "0" "01164" "TYMP_000008" "g.50965674C>G" "" "" "" "" "Alamut: probalbly damaging (PSIC: 0,759)" "Germline" "" "" "0" "" "" "g.50527245C>G" "" "VUS" "" "0000064500" "1" "50" "22" "50964905" "50964905" "subst" "0" "01164" "TYMP_000007" "g.50964905C>T" "" "" "" "" "c.929G>A,p.Gly310Glu; Polyphen-2: probably damaging (PSIC:1,920)" "Germline" "" "" "0" "" "" "g.50526476C>T" "" "VUS" "" "0000064501" "1" "90" "22" "50967000" "50967000" "subst" "8.12618E-6" "01164" "TYMP_000002" "g.50967000C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50528571C>T" "" "pathogenic" "" "0000064502" "1" "90" "22" "50964786" "50964786" "subst" "0" "01164" "TYMP_000006" "g.50964786G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50526357G>A" "" "pathogenic" "" "0000064503" "1" "50" "22" "50964163" "50964163" "subst" "0" "01164" "TYMP_000003" "g.50964163G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50525734G>A" "" "VUS" "" "0000079353" "0" "90" "22" "47182944" "51666786" "del" "0" "00006" "ALG12_000022" "g.47182944_51666786del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, hemizygous in 0.56 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000292997" "0" "10" "22" "50962259" "50962259" "subst" "0.0510657" "02330" "NCAPH2_000007" "g.50962259G>A" "" "" "" "NCAPH2(NM_001185011.2):c.*455G>A, SCO2(NM_001169109.2):c.582C>T (p.S194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50523830G>A" "" "benign" "" "0000295696" "0" "30" "22" "50962640" "50962640" "subst" "0.00232032" "02330" "NCAPH2_000010" "g.50962640G>A" "" "" "" "SCO2(NM_001169109.1):c.201C>T (p.F67=, p.(Phe67=)), SCO2(NM_001169109.2):c.201C>T (p.F67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50524211G>A" "" "likely benign" "" "0000295697" "0" "10" "22" "50962782" "50962782" "subst" "0.639001" "02330" "NCAPH2_000012" "g.50962782C>G" "" "" "" "NCAPH2(NM_001185011.2):c.*978C>G, SCO2(NM_001169109.2):c.59G>C (p.R20P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50524353C>G" "" "benign" "" "0000295698" "0" "10" "22" "50962208" "50962208" "subst" "0.640322" "02330" "NCAPH2_000005" "g.50962208T>G" "" "" "" "NCAPH2(NM_001185011.2):c.*404T>G, SCO2(NM_001169109.2):c.633A>C (p.A211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50523779T>G" "" "benign" "" "0000295699" "0" "30" "22" "50962078" "50962078" "subst" "0.00563884" "02330" "NCAPH2_000003" "g.50962078G>T" "" "" "" "NCAPH2(NM_001185011.2):c.*274G>T, SCO2(NM_001169109.1):c.763C>A (p.(Arg255=)), SCO2(NM_001169109.2):c.763C>A (p.R255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50523649G>T" "" "likely benign" "" "0000298038" "0" "10" "22" "50964255" "50964255" "subst" "0.0459774" "02325" "SCO2_000003" "g.50964255C>T" "" "" "" "SCO2(NM_001169109.2):c.-14+420G>A, TYMP(NM_001113755.2):c.1393G>A (p.(Ala465Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50525826C>T" "" "benign" "" "0000298039" "0" "10" "22" "50964236" "50964236" "subst" "0.127677" "02325" "SCO2_000002" "g.50964236G>A" "" "" "" "SCO2(NM_001169109.1):c.-14+439C>T, SCO2(NM_001169109.2):c.-14+439C>T, TYMP(NM_001953.5):c.1412C>T (p.S471L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50525807G>A" "" "benign" "" "0000298040" "0" "10" "22" "50964862" "50964862" "subst" "0.61063" "02325" "SCO2_000007" "g.50964862G>A" "" "" "" "SCO2(NM_001169109.2):c.-201C>T, TYMP(NM_001113756.3):c.972C>T (p.A324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50526433G>A" "" "benign" "" "0000298041" "0" "30" "22" "50962640" "50962640" "subst" "0.00232032" "02325" "NCAPH2_000010" "g.50962640G>A" "" "" "" "SCO2(NM_001169109.1):c.201C>T (p.F67=, p.(Phe67=)), SCO2(NM_001169109.2):c.201C>T (p.F67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50524211G>A" "" "likely benign" "" "0000298042" "0" "90" "22" "50962423" "50962423" "subst" "8.53492E-5" "02325" "NCAPH2_000009" "g.50962423C>T" "" "" "" "SCO2(NM_001169109.1):c.418G>A (p.E140K), SCO2(NM_001169109.2):c.418G>A (p.E140K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50523994C>T" "" "pathogenic" "" "0000298043" "0" "10" "22" "50962782" "50962782" "subst" "0.639001" "02325" "NCAPH2_000012" "g.50962782C>G" "" "" "" "NCAPH2(NM_001185011.2):c.*978C>G, SCO2(NM_001169109.2):c.59G>C (p.R20P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50524353C>G" "" "benign" "" "0000298044" "0" "10" "22" "50962208" "50962208" "subst" "0.640322" "02325" "NCAPH2_000005" "g.50962208T>G" "" "" "" "NCAPH2(NM_001185011.2):c.*404T>G, SCO2(NM_001169109.2):c.633A>C (p.A211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50523779T>G" "" "benign" "" "0000298045" "0" "30" "22" "50962103" "50962103" "subst" "0.000121842" "02325" "NCAPH2_000004" "g.50962103C>G" "" "" "" "SCO2(NM_001169109.2):c.738G>C (p.S246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50523674C>G" "" "likely benign" "" "0000298046" "0" "30" "22" "50962078" "50962078" "subst" "0.00563884" "02325" "NCAPH2_000003" "g.50962078G>T" "" "" "" "NCAPH2(NM_001185011.2):c.*274G>T, SCO2(NM_001169109.1):c.763C>A (p.(Arg255=)), SCO2(NM_001169109.2):c.763C>A (p.R255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50523649G>T" "" "likely benign" "" "0000301994" "0" "90" "22" "50962423" "50962423" "subst" "8.53492E-5" "02326" "NCAPH2_000009" "g.50962423C>T" "" "" "" "SCO2(NM_001169109.1):c.418G>A (p.E140K), SCO2(NM_001169109.2):c.418G>A (p.E140K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50523994C>T" "" "pathogenic" "" "0000307837" "0" "30" "22" "50962646" "50962646" "subst" "5.88048E-5" "01943" "NCAPH2_000011" "g.50962646G>C" "" "" "" "SCO2(NM_001169109.1):c.195C>G (p.G65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50524217G>C" "" "likely benign" "" "0000307838" "0" "50" "22" "50962075" "50962075" "subst" "4.06283E-6" "01943" "NCAPH2_000002" "g.50962075G>A" "" "" "" "SCO2(NM_001169109.1):c.766C>T (p.R256W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50523646G>A" "" "VUS" "" "0000329127" "0" "50" "22" "50962837" "50962837" "subst" "8.49329E-6" "01804" "NCAPH2_000013" "g.50962837G>C" "" "" "" "SCO2(NM_001169109.1):c.4C>G (p.(Leu2Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50524408G>C" "" "VUS" "" "0000329128" "0" "50" "22" "50964435" "50964435" "subst" "0.000593336" "01804" "SCO2_000004" "g.50964435C>T" "" "" "" "TYMP(NM_001257988.1):c.1295G>A (p.(Arg432His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50526006C>T" "" "VUS" "" "0000329130" "0" "30" "22" "50964599" "50964599" "subst" "0.0371603" "01804" "SCO2_000006" "g.50964599G>C" "" "" "" "TYMP(NM_001113755.2):c.1160-29C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50526170G>C" "" "likely benign" "" "0000329131" "0" "30" "22" "50964913" "50964916" "del" "0" "01804" "TYMP_000009" "g.50964913_50964916del" "" "" "" "TYMP(NM_001113755.2):c.929-6_929-3del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50526484_50526487del" "" "likely benign" "" "0000329135" "0" "30" "22" "50967912" "50967912" "subst" "0.00909369" "01804" "TYMP_000012" "g.50967912C>T" "" "" "" "TYMP(NM_001113755.2):c.214+13G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50529483C>T" "" "likely benign" "" "0000329136" "0" "50" "22" "50969220" "50969220" "subst" "5.23158E-5" "01804" "ODF3B_000001" "g.50969220T>C" "" "" "" "ODF3B(NM_001014440.3):c.602A>G (p.(Gln201Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50530791T>C" "" "VUS" "" "0000459017" "3" "70" "22" "50964906" "50964906" "subst" "0" "02551" "TYMP_000013" "g.50964906C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50526477C>T" "" "likely pathogenic" "" "0000572393" "0" "30" "22" "50962078" "50962078" "subst" "0.00563884" "01804" "NCAPH2_000003" "g.50962078G>T" "" "" "" "NCAPH2(NM_001185011.2):c.*274G>T, SCO2(NM_001169109.1):c.763C>A (p.(Arg255=)), SCO2(NM_001169109.2):c.763C>A (p.R255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50523649G>T" "" "likely benign" "" "0000572394" "0" "50" "22" "50962305" "50962305" "subst" "4.47024E-5" "01804" "NCAPH2_000014" "g.50962305C>T" "" "" "" "SCO2(NM_001169109.1):c.536G>A (p.(Arg179His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50523876C>T" "" "VUS" "" "0000572395" "0" "30" "22" "50962605" "50962605" "subst" "4.1738E-5" "02325" "NCAPH2_000015" "g.50962605C>G" "" "" "" "SCO2(NM_001169109.2):c.236G>C (p.R79T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50524176C>G" "" "likely benign" "" "0000572396" "0" "50" "22" "50962663" "50962663" "subst" "8.4513E-6" "01943" "NCAPH2_000016" "g.50962663G>A" "" "" "" "SCO2(NM_001169109.1):c.178C>T (p.R60W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50524234G>A" "" "VUS" "" "0000572397" "0" "10" "22" "50964446" "50964446" "subst" "0.111923" "02327" "TYMP_000004" "g.50964446A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50526017A>T" "" "benign" "" "0000572398" "0" "10" "22" "50964862" "50964862" "subst" "0.61063" "02327" "SCO2_000007" "g.50964862G>A" "" "" "" "SCO2(NM_001169109.2):c.-201C>T, TYMP(NM_001113756.3):c.972C>T (p.A324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50526433G>A" "" "benign" "" "0000572399" "0" "30" "22" "50967740" "50967740" "subst" "0.00130046" "01943" "NCAPH2_000017" "g.50967740C>T" "" "" "" "TYMP(NM_001113755.2):c.242G>A (p.(Arg81Gln)), TYMP(NM_001113756.2):c.242G>A (p.R81Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50529311C>T" "" "likely benign" "" "0000572400" "0" "30" "22" "50967740" "50967740" "subst" "0.00130046" "01804" "NCAPH2_000017" "g.50967740C>T" "" "" "" "TYMP(NM_001113755.2):c.242G>A (p.(Arg81Gln)), TYMP(NM_001113756.2):c.242G>A (p.R81Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50529311C>T" "" "likely benign" "" "0000572401" "0" "30" "22" "50967945" "50967945" "subst" "0.000521745" "01804" "NCAPH2_000018" "g.50967945C>T" "" "" "" "TYMP(NM_001113755.2):c.194G>A (p.(Ser65Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50529516C>T" "" "likely benign" "" "0000572402" "0" "30" "22" "50968109" "50968109" "subst" "3.78097E-5" "01804" "NCAPH2_000019" "g.50968109C>T" "" "" "" "TYMP(NM_001113755.2):c.30G>A (p.(Gly10=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50529680C>T" "" "likely benign" "" "0000572404" "0" "50" "22" "50969245" "50969245" "del" "0" "01804" "NCAPH2_000021" "g.50969245del" "" "" "" "ODF3B(NM_001014440.3):c.580delG (p.(Val194SerfsTer55))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50530816del" "" "VUS" "" "0000580727" "21" "90" "22" "50965067" "50965067" "subst" "4.87632E-5" "03387" "TYMP_000014" "g.50965067T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50526638T>G" "" "pathogenic (recessive)" "" "0000580728" "0" "90" "22" "50965706" "50965706" "subst" "0" "03387" "TYMP_000015" "g.50965706A>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.50527277A>C" "" "pathogenic (recessive)" "" "0000580729" "3" "90" "22" "50966939" "50966939" "subst" "0" "03387" "TYMP_000016" "g.50966939A>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50528510A>T" "" "pathogenic (recessive)" "" "0000580730" "3" "90" "22" "50967924" "50967924" "subst" "0" "03387" "TYMP_000017" "g.50967924C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50529495C>A" "" "pathogenic (recessive)" "" "0000580731" "3" "90" "22" "50967768" "50967768" "subst" "1.22669E-5" "03387" "TYMP_000001" "g.50967768C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50529339C>G" "" "pathogenic (recessive)" "" "0000618645" "0" "30" "22" "50962331" "50962331" "subst" "0" "01943" "NCAPH2_000022" "g.50962331C>G" "" "" "" "SCO2(NM_001169109.1):c.510G>C (p.E170D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50523902C>G" "" "likely benign" "" "0000618646" "0" "90" "22" "50962423" "50962423" "subst" "8.53492E-5" "01943" "NCAPH2_000009" "g.50962423C>T" "" "" "" "SCO2(NM_001169109.1):c.418G>A (p.E140K), SCO2(NM_001169109.2):c.418G>A (p.E140K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50523994C>T" "" "pathogenic" "" "0000618647" "0" "10" "22" "50964255" "50964255" "subst" "0.0459774" "02327" "SCO2_000003" "g.50964255C>T" "" "" "" "SCO2(NM_001169109.2):c.-14+420G>A, TYMP(NM_001113755.2):c.1393G>A (p.(Ala465Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50525826C>T" "" "benign" "" "0000624333" "0" "30" "22" "50962640" "50962640" "subst" "0.00232032" "01943" "NCAPH2_000010" "g.50962640G>A" "" "" "" "SCO2(NM_001169109.1):c.201C>T (p.F67=, p.(Phe67=)), SCO2(NM_001169109.2):c.201C>T (p.F67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50524211G>A" "" "likely benign" "" "0000624334" "0" "30" "22" "50965683" "50965683" "subst" "0.000150457" "01943" "NCAPH2_000023" "g.50965683C>T" "" "" "" "TYMP(NM_001113755.2):c.676G>A (p.(Gly226Arg)), TYMP(NM_001113756.2):c.676G>A (p.G226R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50527254C>T" "" "likely benign" "" "0000651015" "1" "70" "22" "50965038" "50965038" "subst" "0" "03575" "TYMP_000018" "g.50965038G>T" "1/2788 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs863224252}" "Germline" "" "rs863224252" "0" "" "" "g.50526609G>T" "" "likely pathogenic" "" "0000651016" "1" "50" "22" "50967020" "50967020" "subst" "0.000309094" "03575" "TYMP_000019" "g.50967020C>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; {DB:CLININrs188802138}" "Germline" "" "rs188802138" "0" "" "" "g.50528591C>T" "" "VUS" "" "0000651017" "1" "70" "22" "50967627" "50967627" "subst" "0" "03575" "TYMP_000020" "g.50967627C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs786205559}" "Germline" "" "rs786205559" "0" "" "" "g.50529198C>T" "" "likely pathogenic" "" "0000658983" "0" "30" "22" "50966144" "50966144" "subst" "0.000377818" "01943" "NCAPH2_000024" "g.50966144C>T" "" "" "" "TYMP(NM_001113756.2):c.519G>A (p.M173I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50527715C>T" "" "likely benign" "" "0000660329" "0" "50" "22" "50967740" "50967740" "subst" "0.00130046" "00006" "NCAPH2_000017" "g.50967740C>T" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.50529311C>T" "" "VUS" "" "0000681937" "0" "50" "22" "50962434" "50962445" "dup" "0" "01943" "NCAPH2_000026" "g.50962434_50962445dup" "" "" "" "SCO2(NM_001169109.1):c.402_413dupTGACATCTGCCC (p.I136_D139dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681938" "0" "30" "22" "50964440" "50964440" "subst" "4.0793E-5" "01943" "NCAPH2_000027" "g.50964440C>T" "" "" "" "TYMP(NM_001113756.2):c.1290G>A (p.R430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681939" "0" "30" "22" "50967688" "50967688" "subst" "4.07325E-6" "01943" "NCAPH2_000028" "g.50967688C>T" "" "" "" "TYMP(NM_001113756.2):c.294G>A (p.S98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693223" "0" "50" "22" "50962341" "50962341" "subst" "4.06587E-6" "02325" "NCAPH2_000029" "g.50962341A>C" "" "" "" "SCO2(NM_001169109.1):c.500T>G (p.V167G), SCO2(NM_005138.3):c.500T>G (p.V167G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000704166" "3" "90" "22" "50964889" "50964889" "subst" "0" "01807" "TYMP_000021" "g.50964889C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000728226" "0" "30" "22" "50962265" "50962265" "subst" "0.00045487" "01943" "NCAPH2_000030" "g.50962265G>A" "" "" "" "SCO2(NM_001169109.1):c.576C>T (p.T192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728227" "0" "50" "22" "50962699" "50962699" "subst" "4.27917E-6" "01943" "NCAPH2_000031" "g.50962699C>T" "" "" "" "SCO2(NM_001169109.1):c.142G>A (p.G48R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728228" "0" "30" "22" "50965624" "50965624" "subst" "0.00275506" "01943" "NCAPH2_000032" "g.50965624C>T" "" "" "" "TYMP(NM_001113756.2):c.735G>A (p.Q245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809682" "0" "50" "22" "50962341" "50962341" "subst" "4.06587E-6" "01943" "NCAPH2_000029" "g.50962341A>C" "" "" "" "SCO2(NM_001169109.1):c.500T>G (p.V167G), SCO2(NM_005138.3):c.500T>G (p.V167G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856203" "0" "30" "22" "50964236" "50964236" "subst" "0.127677" "02326" "SCO2_000002" "g.50964236G>A" "" "" "" "SCO2(NM_001169109.1):c.-14+439C>T, SCO2(NM_001169109.2):c.-14+439C>T, TYMP(NM_001953.5):c.1412C>T (p.S471L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856204" "0" "30" "22" "50966963" "50966963" "subst" "1.21886E-5" "01943" "NCAPH2_000038" "g.50966963T>C" "" "" "" "TYMP(NM_001113756.2):c.494A>G (p.N165S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856205" "0" "30" "22" "50968078" "50968078" "subst" "0" "01943" "NCAPH2_000040" "g.50968078C>G" "" "" "" "TYMP(NM_001113756.2):c.61G>C (p.E21Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866906" "0" "50" "22" "50962330" "50962330" "subst" "8.13206E-6" "01943" "NCAPH2_000033" "g.50962330G>A" "" "" "" "SCO2(NM_001169109.1):c.511C>T (p.R171W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866907" "0" "30" "22" "50964255" "50964255" "subst" "0.0459774" "01804" "SCO2_000003" "g.50964255C>T" "" "" "" "SCO2(NM_001169109.2):c.-14+420G>A, TYMP(NM_001113755.2):c.1393G>A (p.(Ala465Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866908" "0" "30" "22" "50964554" "50964554" "subst" "0.000216035" "01804" "NCAPH2_000034" "g.50964554G>A" "" "" "" "TYMP(NM_001113755.2):c.1176C>T (p.(Val392=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866909" "0" "30" "22" "50965102" "50965102" "subst" "0.00801596" "01804" "NCAPH2_000035" "g.50965102C>T" "" "" "" "TYMP(NM_001113755.2):c.831G>A (p.(Leu277=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866910" "0" "90" "22" "50966041" "50966041" "subst" "0.000333111" "01804" "NCAPH2_000036" "g.50966041C>T" "" "" "" "TYMP(NM_001113755.2):c.622G>A (p.(Val208Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866911" "0" "50" "22" "50966121" "50966121" "subst" "1.21853E-5" "01804" "NCAPH2_000037" "g.50966121C>T" "" "" "" "TYMP(NM_001113755.2):c.542G>A (p.(Gly181Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866912" "0" "50" "22" "50967908" "50967908" "subst" "0" "01804" "NCAPH2_000039" "g.50967908C>T" "" "" "" "TYMP(NM_001113755.2):c.214+17G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895817" "0" "50" "22" "50962435" "50962446" "del" "8.12757E-5" "02327" "NCAPH2_000041" "g.50962435_50962446del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895818" "0" "50" "22" "50962462" "50962462" "subst" "0" "02325" "NCAPH2_000042" "g.50962462A>G" "" "" "" "SCO2(NM_005138.3):c.379T>C (p.Y127H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895819" "0" "50" "22" "50964222" "50964222" "subst" "0" "01804" "NCAPH2_000043" "g.50964222G>C" "" "" "" "TYMP(NM_001113755.2):c.1426C>G (p.(Leu476Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895820" "0" "50" "22" "50964699" "50964701" "del" "0" "01804" "NCAPH2_000044" "g.50964699_50964701del" "" "" "" "TYMP(NM_001113755.2):c.1138_1140del (p.(Glu380del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915567" "0" "30" "22" "50964995" "50964995" "dup" "0" "01804" "NCAPH2_000045" "g.50964995dup" "" "" "" "TYMP(NM_001113755.2):c.928+10dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927225" "0" "90" "22" "50964675" "50964675" "subst" "0" "02325" "NCAPH2_000046" "g.50964675C>T" "" "" "" "TYMP(NM_001953.5):c.1159G>A (p.G387S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931317" "0" "30" "22" "50964859" "50964859" "subst" "0" "01804" "NCAPH2_000047" "g.50964859C>T" "" "" "" "TYMP(NM_001257988.1):c.975G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931318" "0" "30" "22" "50965597" "50965597" "subst" "1.22171E-5" "01804" "NCAPH2_000048" "g.50965597C>T" "" "" "" "TYMP(NM_001113755.2):c.762G>A (p.(Thr254=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931319" "0" "70" "22" "50968129" "50968129" "del" "0" "01804" "TYMP_000022" "g.50968129del" "" "" "" "TYMP(NM_001257988.1):c.11del (p.(Leu4Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000951639" "0" "50" "22" "50964725" "50964725" "subst" "0" "01804" "NCAPH2_000049" "g.50964725T>C" "" "" "" "TYMP(NM_001113755.2):c.1109A>G (p.(Gln370Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951640" "0" "30" "22" "50965683" "50965683" "subst" "0.000150457" "01804" "NCAPH2_000023" "g.50965683C>T" "" "" "" "TYMP(NM_001113755.2):c.676G>A (p.(Gly226Arg)), TYMP(NM_001113756.2):c.676G>A (p.G226R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970542" "0" "30" "22" "50962514" "50962514" "subst" "0.00759008" "01804" "NCAPH2_000050" "g.50962514G>A" "" "" "" "SCO2(NM_001169109.1):c.327C>T (p.(His109=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970543" "0" "10" "22" "50967935" "50967935" "subst" "0.00409759" "01804" "NCAPH2_000051" "g.50967935G>A" "" "" "" "TYMP(NM_001113755.2):c.204C>T (p.(Gly68=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000970544" "0" "30" "22" "50968184" "50968184" "subst" "0.000291976" "01804" "NCAPH2_000052" "g.50968184C>A" "" "" "" "TYMP(NM_001113755.2):c.-22-24G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984315" "0" "50" "22" "50962117" "50962117" "subst" "2.84292E-5" "01804" "NCAPH2_000053" "g.50962117C>T" "" "" "" "SCO2(NM_005138.3):c.724G>A (p.(Gly242Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984316" "0" "70" "22" "50962330" "50962330" "subst" "8.13206E-6" "02327" "NCAPH2_000033" "g.50962330G>A" "" "" "" "SCO2(NM_001169109.1):c.511C>T (p.R171W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000984317" "0" "30" "22" "50966962" "50966962" "subst" "9.34503E-5" "01804" "NCAPH2_000054" "g.50966962A>G" "" "" "" "TYMP(NM_001953.5):c.495T>C (p.(Asn165=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006252" "0" "30" "22" "50960191" "50960191" "subst" "0.000414324" "01804" "NCAPH2_000056" "g.50960191C>G" "" "" "" "NCAPH2(NM_152299.3):c.1022C>G (p.(Pro341Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006253" "0" "10" "22" "50962065" "50962065" "subst" "0.00229975" "01804" "NCAPH2_000057" "g.50962065G>A" "" "" "" "SCO2(NM_005138.2):c.776C>T (p.(Ala259Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001006254" "0" "50" "22" "50962155" "50962155" "subst" "0" "01804" "NCAPH2_000058" "g.50962155T>C" "" "" "" "SCO2(NM_005138.2):c.686A>G (p.(Tyr229Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006255" "0" "90" "22" "50962264" "50962264" "subst" "3.24905E-5" "02327" "NCAPH2_000008" "g.50962264C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001006256" "0" "50" "22" "50962331" "50962331" "subst" "0" "02327" "NCAPH2_000022" "g.50962331C>G" "" "" "" "SCO2(NM_001169109.1):c.510G>C (p.E170D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006257" "0" "50" "22" "50962854" "50962854" "subst" "0" "01804" "NCAPH2_000059" "g.50962854C>T" "" "" "" "SCO2(NM_005138.2):c.-13-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006258" "0" "50" "22" "50965623" "50965623" "subst" "2.0348E-5" "01804" "NCAPH2_000060" "g.50965623C>T" "" "" "" "TYMP(NM_001113755.2):c.736G>A (p.(Glu246Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006259" "0" "30" "22" "50966925" "50966925" "subst" "0" "01804" "NCAPH2_000061" "g.50966925C>T" "" "" "" "TYMP(NM_001257988.1):c.516+16G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015959" "0" "50" "22" "50962077" "50962077" "subst" "3.25002E-5" "01804" "NCAPH2_000062" "g.50962077C>T" "" "" "" "SCO2(NM_001169109.1):c.764G>A (p.(Arg255Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015960" "0" "50" "22" "50962329" "50962329" "subst" "2.03303E-5" "01804" "NCAPH2_000063" "g.50962329C>T" "" "" "" "SCO2(NM_001169109.1):c.512G>A (p.(Arg171Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015961" "0" "30" "22" "50964760" "50964760" "subst" "0.000176541" "01804" "NCAPH2_000064" "g.50964760T>C" "" "" "" "TYMP(NM_001113755.2):c.1074A>G (p.(Arg358=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027415" "0" "30" "22" "50962640" "50962640" "subst" "0.00232032" "01804" "NCAPH2_000010" "g.50962640G>A" "" "" "" "SCO2(NM_001169109.1):c.201C>T (p.F67=, p.(Phe67=)), SCO2(NM_001169109.2):c.201C>T (p.F67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027416" "0" "30" "22" "50964596" "50964596" "subst" "0" "01804" "NCAPH2_000065" "g.50964596C>T" "" "" "" "TYMP(NM_001257988.1):c.1160-26G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043962" "0" "30" "22" "50962301" "50962301" "subst" "7.3144E-5" "01804" "NCAPH2_000066" "g.50962301G>A" "" "" "" "SCO2(NM_001169109.1):c.540C>T (p.(Tyr180=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043963" "0" "50" "22" "50962341" "50962341" "subst" "4.06587E-6" "02327" "NCAPH2_000029" "g.50962341A>C" "" "" "" "SCO2(NM_001169109.1):c.500T>G (p.V167G), SCO2(NM_005138.3):c.500T>G (p.V167G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043964" "0" "50" "22" "50962608" "50962627" "dup" "0" "01804" "NCAPH2_000067" "g.50962608_50962627dup" "" "" "" "SCO2(NM_005138.3):c.215_234dup (p.(Arg79Valfs*7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043965" "0" "50" "22" "50962662" "50962662" "subst" "1.6894E-5" "01804" "NCAPH2_000068" "g.50962662C>T" "" "" "" "SCO2(NM_005138.3):c.179G>A (p.(Arg60Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046829" "0" "50" "22" "50962597" "50962597" "subst" "0.000141515" "01804" "NCAPH2_000069" "g.50962597T>C" "" "" "" "SCO2(NM_001169109.1):c.244A>G (p.(Lys82Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046830" "0" "90" "22" "50965067" "50965067" "subst" "4.87632E-5" "01804" "TYMP_000014" "g.50965067T>G" "" "" "" "TYMP(NM_001113755.2):c.866A>C (p.(Glu289Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TYMP ## Count = 114 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000064496" "00025455" "90" "215" "-1" "215" "-1" "c.215-1G>C" "r.spl" "p.?" "" "0000064497" "00025455" "90" "1160" "-1" "1160" "-1" "c.1160-1G>A" "r.spl" "p.?" "" "0000064498" "00025455" "10" "1284" "0" "1284" "0" "c.1284T>A" "r.(?)" "p.(=)" "" "0000064499" "00025455" "50" "685" "0" "685" "0" "c.685G>C" "r.(?)" "p.(Ala229Pro)" "" "0000064500" "00025455" "50" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Glu)" "" "0000064501" "00025455" "90" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Gly153Ser)" "" "0000064502" "00025455" "90" "1048" "0" "1048" "0" "c.1048C>T" "r.(?)" "p.(Gln350*)" "" "0000064503" "00025455" "50" "1485" "0" "1485" "0" "c.*36C>T" "r.(?)" "p.(=)" "" "0000079353" "00025455" "90" "-698499" "0" "3782704" "0" "c.-698499_*3781255del" "r.0?" "p.0?" "" "0000292997" "00025455" "10" "3389" "0" "3389" "0" "c.*1940C>T" "r.(=)" "p.(=)" "" "0000295696" "00025455" "30" "3008" "0" "3008" "0" "c.*1559C>T" "r.(=)" "p.(=)" "" "0000295697" "00025455" "10" "2866" "0" "2866" "0" "c.*1417G>C" "r.(=)" "p.(=)" "" "0000295698" "00025455" "10" "3440" "0" "3440" "0" "c.*1991A>C" "r.(=)" "p.(=)" "" "0000295699" "00025455" "30" "3570" "0" "3570" "0" "c.*2121C>A" "r.(=)" "p.(=)" "" "0000298038" "00025455" "10" "1393" "0" "1393" "0" "c.1393G>A" "r.(?)" "p.(Ala465Thr)" "" "0000298039" "00025455" "10" "1412" "0" "1412" "0" "c.1412C>T" "r.(?)" "p.(Ser471Leu)" "" "0000298040" "00025455" "10" "972" "0" "972" "0" "c.972C>T" "r.(?)" "p.(Ala324=)" "" "0000298041" "00025455" "30" "3008" "0" "3008" "0" "c.*1559C>T" "r.(=)" "p.(=)" "" "0000298042" "00025455" "90" "3225" "0" "3225" "0" "c.*1776G>A" "r.(=)" "p.(=)" "" "0000298043" "00025455" "10" "2866" "0" "2866" "0" "c.*1417G>C" "r.(=)" "p.(=)" "" "0000298044" "00025455" "10" "3440" "0" "3440" "0" "c.*1991A>C" "r.(=)" "p.(=)" "" "0000298045" "00025455" "30" "3545" "0" "3545" "0" "c.*2096G>C" "r.(=)" "p.(=)" "" "0000298046" "00025455" "30" "3570" "0" "3570" "0" "c.*2121C>A" "r.(=)" "p.(=)" "" "0000301994" "00025455" "90" "3225" "0" "3225" "0" "c.*1776G>A" "r.(=)" "p.(=)" "" "0000307837" "00025455" "30" "3002" "0" "3002" "0" "c.*1553C>G" "r.(=)" "p.(=)" "" "0000307838" "00025455" "50" "3573" "0" "3573" "0" "c.*2124C>T" "r.(=)" "p.(=)" "" "0000329127" "00025455" "50" "2811" "0" "2811" "0" "c.*1362C>G" "r.(=)" "p.(=)" "" "0000329128" "00025455" "50" "1295" "0" "1295" "0" "c.1295G>A" "r.(?)" "p.(Arg432His)" "" "0000329130" "00025455" "30" "1160" "-29" "1160" "-29" "c.1160-29C>G" "r.(=)" "p.(=)" "" "0000329131" "00025455" "30" "929" "-6" "929" "-3" "c.929-6_929-3del" "r.spl?" "p.?" "" "0000329135" "00025455" "30" "214" "13" "214" "13" "c.214+13G>A" "r.(=)" "p.(=)" "" "0000329136" "00025455" "50" "-933" "0" "-933" "0" "c.-933A>G" "r.(?)" "p.(=)" "" "0000459017" "00025455" "70" "929" "-1" "929" "-1" "c.929-1G>A" "r.spl" "p.?" "" "0000572393" "00025455" "30" "3570" "0" "3570" "0" "c.*2121C>A" "r.(=)" "p.(=)" "" "0000572394" "00025455" "50" "3343" "0" "3343" "0" "c.*1894G>A" "r.(=)" "p.(=)" "" "0000572395" "00025455" "30" "3043" "0" "3043" "0" "c.*1594G>C" "r.(=)" "p.(=)" "" "0000572396" "00025455" "50" "2985" "0" "2985" "0" "c.*1536C>T" "r.(=)" "p.(=)" "" "0000572397" "00025455" "10" "1284" "0" "1284" "0" "c.1284T>A" "r.(?)" "p.(Gly428=)" "" "0000572398" "00025455" "10" "972" "0" "972" "0" "c.972C>T" "r.(?)" "p.(Ala324=)" "" "0000572399" "00025455" "30" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Arg81Gln)" "" "0000572400" "00025455" "30" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Arg81Gln)" "" "0000572401" "00025455" "30" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Ser65Asn)" "" "0000572402" "00025455" "30" "30" "0" "30" "0" "c.30G>A" "r.(?)" "p.(Gly10=)" "" "0000572404" "00025455" "50" "-955" "0" "-955" "0" "c.-955del" "r.(?)" "p.(=)" "" "0000580727" "00025455" "90" "866" "0" "866" "0" "c.866A>C" "r.(?)" "p.(Glu289Ala)" "7" "0000580728" "00025455" "90" "653" "0" "653" "0" "c.653T>G" "r.(?)" "p.(Ile218Ser)" "6" "0000580729" "00025455" "90" "516" "2" "516" "2" "c.516+2T>A" "r.spl" "p.?" "" "0000580730" "00025455" "90" "214" "1" "214" "1" "c.214+1G>T" "r.spl" "p.?" "" "0000580731" "00025455" "90" "215" "-1" "215" "-1" "c.215-1G>C" "r.spl?" "p.?" "" "0000618645" "00025455" "30" "3317" "0" "3317" "0" "c.*1868G>C" "r.(=)" "p.(=)" "" "0000618646" "00025455" "90" "3225" "0" "3225" "0" "c.*1776G>A" "r.(=)" "p.(=)" "" "0000618647" "00025455" "10" "1393" "0" "1393" "0" "c.1393G>A" "r.(?)" "p.(Ala465Thr)" "" "0000624333" "00025455" "30" "3008" "0" "3008" "0" "c.*1559C>T" "r.(=)" "p.(=)" "" "0000624334" "00025455" "30" "676" "0" "676" "0" "c.676G>A" "r.(?)" "p.(Gly226Arg)" "" "0000651015" "00025455" "70" "895" "0" "895" "0" "c.895C>A" "r.(?)" "p.(Pro299Thr)" "" "0000651016" "00025455" "50" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Arg146His)" "" "0000651017" "00025455" "70" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Gly119Arg)" "" "0000658983" "00025455" "30" "519" "0" "519" "0" "c.519G>A" "r.(?)" "p.(Met173Ile)" "" "0000660329" "00025455" "50" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Arg81Gln)" "" "0000681937" "00025455" "50" "3209" "0" "3220" "0" "c.*1760_*1771dup" "r.(=)" "p.(=)" "" "0000681938" "00025455" "30" "1290" "0" "1290" "0" "c.1290G>A" "r.(?)" "p.(Arg430=)" "" "0000681939" "00025455" "30" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(Ser98=)" "" "0000693223" "00025455" "50" "3307" "0" "3307" "0" "c.*1858T>G" "r.(=)" "p.(=)" "" "0000704166" "00025455" "90" "945" "0" "945" "0" "c.945G>A" "r.(?)" "p.(Trp315Ter)" "" "0000728226" "00025455" "30" "3383" "0" "3383" "0" "c.*1934C>T" "r.(=)" "p.(=)" "" "0000728227" "00025455" "50" "2949" "0" "2949" "0" "c.*1500G>A" "r.(=)" "p.(=)" "" "0000728228" "00025455" "30" "735" "0" "735" "0" "c.735G>A" "r.(?)" "p.(Gln245=)" "" "0000809682" "00025455" "50" "3307" "0" "3307" "0" "c.*1858T>G" "r.(=)" "p.(=)" "" "0000856203" "00025455" "30" "1412" "0" "1412" "0" "c.1412C>T" "r.(?)" "p.(Ser471Leu)" "" "0000856204" "00025455" "30" "494" "0" "494" "0" "c.494A>G" "r.(?)" "p.(Asn165Ser)" "" "0000856205" "00025455" "30" "61" "0" "61" "0" "c.61G>C" "r.(?)" "p.(Glu21Gln)" "" "0000866906" "00025455" "50" "3318" "0" "3318" "0" "c.*1869C>T" "r.(=)" "p.(=)" "" "0000866907" "00025455" "30" "1393" "0" "1393" "0" "c.1393G>A" "r.(?)" "p.(Ala465Thr)" "" "0000866908" "00025455" "30" "1176" "0" "1176" "0" "c.1176C>T" "r.(?)" "p.(Val392=)" "" "0000866909" "00025455" "30" "831" "0" "831" "0" "c.831G>A" "r.(?)" "p.(Leu277=)" "" "0000866910" "00025455" "90" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Val208Met)" "" "0000866911" "00025455" "50" "542" "0" "542" "0" "c.542G>A" "r.(?)" "p.(Gly181Asp)" "" "0000866912" "00025455" "50" "214" "17" "214" "17" "c.214+17G>A" "r.(=)" "p.(=)" "" "0000895817" "00025455" "50" "3202" "0" "3213" "0" "c.*1753_*1764del" "r.(=)" "p.(=)" "" "0000895818" "00025455" "50" "3186" "0" "3186" "0" "c.*1737T>C" "r.(=)" "p.(=)" "" "0000895819" "00025455" "50" "1426" "0" "1426" "0" "c.1426C>G" "r.(?)" "p.(Leu476Val)" "" "0000895820" "00025455" "50" "1138" "0" "1140" "0" "c.1138_1140del" "r.(?)" "p.(Glu380del)" "" "0000915567" "00025455" "30" "928" "10" "928" "10" "c.928+10dup" "r.(=)" "p.(=)" "" "0000927225" "00025455" "90" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Gly387Ser)" "" "0000931317" "00025455" "30" "975" "0" "975" "0" "c.975G>A" "r.(?)" "p.(Gln325=)" "" "0000931318" "00025455" "30" "762" "0" "762" "0" "c.762G>A" "r.(?)" "p.(Thr254=)" "" "0000931319" "00025455" "70" "11" "0" "11" "0" "c.11del" "r.(?)" "p.(Leu4*)" "" "0000951639" "00025455" "50" "1109" "0" "1109" "0" "c.1109A>G" "r.(?)" "p.(Gln370Arg)" "" "0000951640" "00025455" "30" "676" "0" "676" "0" "c.676G>A" "r.(?)" "p.(Gly226Arg)" "" "0000970542" "00025455" "30" "3134" "0" "3134" "0" "c.*1685C>T" "r.(=)" "p.(=)" "" "0000970543" "00025455" "10" "204" "0" "204" "0" "c.204C>T" "r.(?)" "p.(Gly68=)" "" "0000970544" "00025455" "30" "-45" "-1" "-45" "-1" "c.-45-1G>T" "r.spl?" "p.?" "" "0000984315" "00025455" "50" "3531" "0" "3531" "0" "c.*2082G>A" "r.(=)" "p.(=)" "" "0000984316" "00025455" "70" "3318" "0" "3318" "0" "c.*1869C>T" "r.(=)" "p.(=)" "" "0000984317" "00025455" "30" "495" "0" "495" "0" "c.495T>C" "r.(?)" "p.(Asn165=)" "" "0001006252" "00025455" "30" "5457" "0" "5457" "0" "c.*4008G>C" "r.(=)" "p.(=)" "" "0001006253" "00025455" "10" "3583" "0" "3583" "0" "c.*2134C>T" "r.(=)" "p.(=)" "" "0001006254" "00025455" "50" "3493" "0" "3493" "0" "c.*2044A>G" "r.(=)" "p.(=)" "" "0001006255" "00025455" "90" "3384" "0" "3384" "0" "c.*1935G>A" "r.(=)" "p.(=)" "" "0001006256" "00025455" "50" "3317" "0" "3317" "0" "c.*1868G>C" "r.(=)" "p.(=)" "" "0001006257" "00025455" "50" "2794" "0" "2794" "0" "c.*1345G>A" "r.(=)" "p.(=)" "" "0001006258" "00025455" "50" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Glu246Lys)" "" "0001006259" "00025455" "30" "516" "16" "516" "16" "c.516+16G>A" "r.(=)" "p.(=)" "" "0001015959" "00025455" "50" "3571" "0" "3571" "0" "c.*2122G>A" "r.(=)" "p.(=)" "" "0001015960" "00025455" "50" "3319" "0" "3319" "0" "c.*1870G>A" "r.(=)" "p.(=)" "" "0001015961" "00025455" "30" "1074" "0" "1074" "0" "c.1074A>G" "r.(?)" "p.(Arg358=)" "" "0001027415" "00025455" "30" "3008" "0" "3008" "0" "c.*1559C>T" "r.(=)" "p.(=)" "" "0001027416" "00025455" "30" "1160" "-26" "1160" "-26" "c.1160-26G>A" "r.(=)" "p.(=)" "" "0001043962" "00025455" "30" "3347" "0" "3347" "0" "c.*1898C>T" "r.(=)" "p.(=)" "" "0001043963" "00025455" "50" "3307" "0" "3307" "0" "c.*1858T>G" "r.(=)" "p.(=)" "" "0001043964" "00025455" "50" "3022" "0" "3041" "0" "c.*1573_*1592dup" "r.(=)" "p.(=)" "" "0001043965" "00025455" "50" "2986" "0" "2986" "0" "c.*1537G>A" "r.(=)" "p.(=)" "" "0001046829" "00025455" "50" "3051" "0" "3051" "0" "c.*1602A>G" "r.(=)" "p.(=)" "" "0001046830" "00025455" "90" "866" "0" "866" "0" "c.866A>C" "r.(?)" "p.(Glu289Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000037371" "0000064496" "0000037372" "0000064497" "0000037373" "0000064498" "0000037374" "0000064499" "0000037375" "0000064500" "0000037376" "0000064501" "0000037377" "0000064502" "0000037378" "0000064503" "0000050373" "0000079353" "0000226677" "0000459017" "0000251294" "0000580727" "0000251294" "0000580728" "0000251295" "0000580729" "0000251296" "0000580730" "0000251297" "0000580731" "0000294326" "0000651015" "0000294327" "0000651016" "0000294328" "0000651017" "0000297720" "0000660329" "0000321337" "0000704166"